PTPN20
Protein Tyrosine Phosphatase Non-Receptor Type 20
Gene Information Card
| Symbol | PTPN20 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.22 |
| NCBI Gene ID | 26095 ncbi.nlm.nih.gov/gene/26095 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | Q9Y2R2 |
| OMIM ID | 617468 |
| HGNC ID | 9659 |
| Aliases | PTPN20A, PTPN20B, PTP-TY, PTPN20C |
Description
PTPN20 encodes a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is located on chromosome 10q11.22 and is expressed in multiple tissues. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 6.2 | Low |
| Lung | 4.8 | Low |
| Liver | 3.1 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.3 | Moderate expression |
| HeLa | 5.1 | Low expression |
| K562 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567delA | frameshift | 0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • dephosphorylation |
| • signal transduction | • cytoplasm |
Pathways
• Protein tyrosine phosphatase signaling
• MAPK signaling (indirect)
Protein Summary
PTPN20 is a non-receptor type protein tyrosine phosphatase. The protein contains a single catalytic domain and is involved in dephosphorylating phosphotyrosine residues. It may play a role in regulating cell signaling and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN20 Knockout HEK293 Cell Line | EDJ-KQ51164 | Human | 26095 | Details Get a Quote |
| PTPN20 Knockout HeLa Cell Line | EDJ-KQ55882 | Human | 26095 | Details Get a Quote |
| PTPN20 Knockout A-549 Cell Line | EDJ-KQ64372 | Human | 26095 | Details Get a Quote |
| PTPN20 Knockout HCT 116 Cell Line | EDJ-KQ72823 | Human | 26095 | Details Get a Quote |
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